نتایج جستجو برای: facioscapulohumeral muscular dystrophy
تعداد نتایج: 52771 فیلتر نتایج به سال:
Seventy-five patients with a variety of muscular dystrophies were studied using computed tomography (CT). At least 11 slices were taken in each patient, from the forearm to the lower leg. Sufficient information was obtained to provide some CT characteristics of several dystrophies, including Duchenne muscular dystrophy, facioscapulohumeral syndrome, limb-girdle muscle myopathies, and myopathic ...
AIM Facioscapulohumeral muscular dystrophy (FSHD) is an autosomally inherited neuromuscular disorder and may be associated with increased cancer risk. PATIENT A 69-year old female admitted to hospital with complaint of left axillary mass who had diagnosis of FSHD in her adulthood period. RESULTS Bilateral breast cancer diagnosis was made and the patient underwent bilateral mastectomy. Follo...
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant myopathy with a strong epigenetic component. It is associated with deletion of a macrosatellite repeat leading to over-expression of the nearby genes. Among them, we focused on FSHD region gene 1 (FRG1) since its over-expression in mice, Xenopus laevis and Caenorhabditis elegans, leads to muscular dystrophy-like defects, sug...
Study of the serum creatine kinase levels in young patients with facioscapulohumeral muscular dystrophy suggests that enzyme assay may be valuable as a screening procedure for assessing the status of relatives of an affected individual who have no previous clinical history, and that consequently it may be of use in genetic counselling.
Linkage analysis was undertaken in seven French families with facioscapulohumeral muscular dystrophy (FSHD). Six polymorphic DNA probes were studied, including random DNA sequences, coding sequences, and a hypervariable marker. No evidence for linkage of these probes to the disease was detected, and the results exclude probable location of the FSHD gene from three chromosomal regions (16p, prox...
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